Variant report

Variant	rs2232295
Chromosome Location	chr6:142468263-142468264
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr6:142468013-142468687	MCF-7	breast:	n/a	chr6:142468198-142468207
2	YY1	chr6:142468109-142468744	K562	blood:	n/a	chr6:142468620-142468629
3	REST	chr6:142467983-142468664	A549	lung:	n/a	n/a
4	SIN3AK20	chr6:142468105-142468688	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr6:142468140-142468290	AG09309	skin:	n/a	chr6:142468177-142468195
6	NFIC	chr6:142467969-142468931	HepG2	liver:	n/a	n/a
7	SP1	chr6:142468044-142468577	GM12878	blood:	n/a	chr6:142468167-142468181
8	RFX5	chr6:142468100-142468690	HepG2	liver:	n/a	chr6:142468305-142468319
9	HEY1	chr6:142468145-142468667	K562	blood:	n/a	n/a
10	NFATC1	chr6:142467949-142468490	GM12878	blood:	n/a	n/a
11	EGR1	chr6:142468089-142468675	H1-hESC	embryonic stem cell:	n/a	chr6:142468374-142468383 chr6:142468360-142468367 chr6:142468621-142468634 chr6:142468620-142468630 chr6:142468619-142468629
12	ZNF143	chr6:142468010-142468553	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr6:142468000-142468729	H1-neurons	neurons:	n/a	n/a
14	TAF1	chr6:142468078-142468623	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr6:142468190-142468982	GM12878	blood:	n/a	n/a
16	MAZ	chr6:142467850-142468957	GM12878	blood:	n/a	chr6:142468198-142468207
17	POLR2A	chr6:142468187-142468694	GM12878	blood:	n/a	n/a
18	CTCF	chr6:142468054-142468416	Kidney_OC	kidney:	n/a	chr6:142468177-142468195
19	ZBTB7A	chr6:142468028-142468486	K562	blood:	n/a	n/a
20	BRCA1	chr6:142467983-142468692	Hela-S3	cervix:	n/a	n/a
21	ELF1	chr6:142467993-142468793	SK-N-SH	brain:	n/a	chr6:142468373-142468382 chr6:142468370-142468383
22	NFIC	chr6:142467826-142468833	HepG2	liver:	n/a	n/a
23	SP4	chr6:142467950-142468570	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr6:142467974-142468324	HUVEC	blood vessel:	n/a	chr6:142468177-142468195
25	SIN3AK20	chr6:142467963-142468878	PANC-1	pancreas:	n/a	n/a
26	YY1	chr6:142468159-142468626	NT2-D1	testis:	n/a	n/a
27	CUX1	chr6:142467768-142468440	K562	blood:	n/a	n/a
28	TBL1XR1	chr6:142468022-142468748	K562	blood:	n/a	n/a
29	CTCF	chr6:142468070-142468344	ProgFib	skin:	n/a	chr6:142468177-142468195
30	MYC	chr6:142468010-142468910	NB4	blood:	n/a	chr6:142468198-142468207
31	CTCF	chr6:142468140-142468290	HBMEC	blood vessel:	n/a	chr6:142468177-142468195
32	NFYB	chr6:142468162-142468585	GM12878	blood:	n/a	n/a
33	POLR2A	chr6:142468233-142468545	A549	lung:	n/a	n/a
34	EGR1	chr6:142467991-142468689	MCF-7	breast:	n/a	chr6:142468374-142468383 chr6:142468360-142468367 chr6:142468621-142468634 chr6:142468620-142468630 chr6:142468619-142468629
35	POLR2A	chr6:142468225-142468611	GM12891	blood:	n/a	n/a
36	CTCF	chr6:142467788-142468445	IMR90	lung:	n/a	chr6:142468177-142468195
37	CTCF	chr6:142468092-142468347	GM19239	blood:	n/a	chr6:142468177-142468195
38	BCLAF1	chr6:142467982-142468621	GM12878	blood:	n/a	chr6:142468374-142468383
39	E2F6	chr6:142468062-142468511	K562	blood:	n/a	chr6:142468207-142468224 chr6:142468210-142468221 chr6:142468214-142468221
40	POLR2A	chr6:142468197-142468733	HepG2	liver:	n/a	n/a
41	GABPA	chr6:142468082-142468654	Hela-S3	cervix:	n/a	chr6:142468373-142468380 chr6:142468620-142468629
42	MAZ	chr6:142467949-142468991	IMR90	lung:	n/a	chr6:142468198-142468207
43	MYC	chr6:142468126-142468507	K562	blood:	n/a	chr6:142468198-142468207
44	MYC	chr6:142468158-142468515	GM12878	blood:	n/a	chr6:142468198-142468207
45	TAF1	chr6:142468126-142468715	SK-N-SH	brain:	n/a	n/a
46	CTCF	chr6:142468015-142468328	GM10266	blood:	n/a	chr6:142468177-142468195
47	SIN3AK20	chr6:142468071-142468831	HepG2	liver:	n/a	n/a
48	CTCF	chr6:142468105-142468314	H1-hESC	embryonic stem cell:	n/a	chr6:142468177-142468195
49	CTCF	chr6:142468064-142468334	MCF-7	breast:	n/a	chr6:142468177-142468195
50	CTCF	chr6:142468071-142468386	GM19238	blood:	n/a	chr6:142468177-142468195

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:142460806..142463212-chr6:142465589..142468326,2	K562	blood:

Variant related genes	Relation type
VTA1	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17071594	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6903934	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73777114	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886732	chr6:142290338-142536049	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv886733	chr6:142316672-142514226	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv886734	chr6:142347611-142523865	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv830824	chr6:142361107-142544929	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv886735	chr6:142365171-142472294	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv886736	chr6:142365171-142523865	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142467200-142469000	Active TSS	Brain Anterior Caudate	brain
2	chr6:142467200-142469000	Active TSS	Fetal Heart	heart
3	chr6:142467200-142469200	Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr6:142467400-142468800	Active TSS	Fetal Brain Male	brain
5	chr6:142467400-142469000	Active TSS	Brain Angular Gyrus	brain
6	chr6:142467400-142469000	Active TSS	Brain Hippocampus Middle	brain
7	chr6:142467400-142469000	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr6:142467400-142469000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr6:142467400-142469000	Active TSS	Fetal Lung	lung
10	chr6:142467400-142469200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:142467400-142469200	Active TSS	Colon Smooth Muscle	Colon
12	chr6:142467400-142469200	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr6:142467400-142469200	Active TSS	Stomach Smooth Muscle	stomach
14	chr6:142467600-142468400	Active TSS	HepG2	liver
15	chr6:142467600-142468600	Active TSS	Primary hematopoietic stem cells	blood
16	chr6:142467600-142468800	Active TSS	Brain Substantia Nigra	brain
17	chr6:142467600-142468800	Active TSS	Duodenum Mucosa	Duodenum
18	chr6:142467600-142469000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:142467600-142469000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:142467600-142469000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:142467600-142469000	Active TSS	Brain Cingulate Gyrus	brain
22	chr6:142467600-142469000	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr6:142467600-142469000	Active TSS	Fetal Stomach	stomach
24	chr6:142467600-142469200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:142467600-142469200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:142467600-142469200	Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr6:142467600-142469200	Active TSS	HMEC	breast
28	chr6:142467600-142469200	Active TSS	NHDF-Ad	bronchial
29	chr6:142467600-142469400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:142467600-142469400	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr6:142467600-142469400	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr6:142467600-142469400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:142467600-142469400	Active TSS	Brain Germinal Matrix	brain
34	chr6:142467600-142469400	Active TSS	Fetal Intestine Small	intestine
35	chr6:142467600-142469400	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr6:142467600-142469400	Active TSS	K562	blood
37	chr6:142467600-142469400	Active TSS	NHLF	lung
38	chr6:142467600-142469600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:142467600-142469800	Active TSS	Fetal Kidney	kidney
40	chr6:142467600-142470200	Active TSS	Right Atrium	heart
41	chr6:142467600-142470800	Active TSS	GM12878-XiMat	blood
42	chr6:142467800-142468600	Active TSS	Primary monocytes fromperipheralblood	blood
43	chr6:142467800-142468600	Active TSS	Primary B cells from peripheral blood	blood
44	chr6:142467800-142468800	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr6:142467800-142468800	Active TSS	Fetal Brain Female	brain
46	chr6:142467800-142469000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:142467800-142469000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:142467800-142469000	Active TSS	Fetal Thymus	thymus
49	chr6:142467800-142469000	Active TSS	Rectal Smooth Muscle	rectum
50	chr6:142467800-142469200	Active TSS	iPS-18 Cell Line	embryonic stem cell

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